Background: How genotype affects phenotype in hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) has not been totally clarified. In this study, we investigated the relationship between different types of mutations and various phenotypic characteristics. Methods: Clinical data from 81 patients from 47 families were recorded. Complement proteins were analyzed from 61 untreated patients. The coding exons and the exon-intron boundaries of the SERPING1 gene were sequenced, and deletion/duplication analysis with multiple ligation dependent probe amplification was performed. The relationship of complement protein with the mutation type was analyzed by using generalized estimating equations. Results: Thirty-five different mutations (15 novel and 2/15 homozygous) were identified. There was no causative mutation in 6 patients (7.4%). Patients with deletion and large deletion had the lowest (5.05%, 0–18.7; 5.8%, 0–16.5%, respectively), and the none mutation group had the highest C1 inhibitor function (23.3%, 11–78%, p < 0.001). C1 inhibitor function levels decreased as the age of the disease progressed (r = –0.352, p = 0.005). Lower C1 inhibitor function levels caused severer disease (r = –0.404, p = 0.001) and more frequent annual attacks (r = –0.289, p = 0.024). In the off-attack period, C1q levels were lower than normal in 9.8% of the patients. Conclusion: Deletion mutations may represent the most unfavorable effect on C1 inhibitor function. The earlier disease onset age could be a sign for lower C1 inhibitor function levels in adult life. C1q levels could also be low in C1-INH-HAE patients, as in acquired angioedema. Lower C1 inhibitor function can predict disease severity and may have negative impacts on the course of C1-INH-HAE.

Background: It has been suggested that latex-specific IgE analysis may lead to false-positive results, especially in patients with pollen allergy. In the present study, the reasons underlying clinically irrelevant latex-specific IgE positivity were investigated. Methods: Thirty patients with latex allergy (group 1), 89 patients sensitised to aeroallergens (group 2a), and 98 healthy individuals without allergy (group 2b) were enrolled. Participants from all 3 groups were subjected to skin prick tests with aeroallergens including latex, latex-specific IgE analysis (ImmunoCAP), and nasal provocation test with latex. All cases demonstrating positive latex-specific IgE also underwent specific IgE tests (ImmunoCAP) with latex profilin, birch pollen profilin, peach lipid transfer protein, and pineapple bromelain as cross-reactive carbohydrate determinants. Results: Comparison of the atopic and healthy control groups showed that the rate of positive latex-specific IgE was significantly higher in group 2a. Latex profilin-, birch pollen profilin-, and bromelain-specific IgE were remarkably higher in group 2a. Conclusion: False positivity to latex-specific IgE in ImmunoCAP analysis may be observed in approximately 19% of patients with pollen allergy. Profilins and bromelain are the main contributors to clinically irrelevant positive latex-specific IgE.

HLA-G alleles seem to be related with miscarriage and should be considered in RM cases.

H ereditary angioedema (HAE) is a rare but serious genetic disorder characterized by angioedema attacks in the skin, gastrointestinal tract and upper airway that can be spontaneous or the result of var- The questionnaire included HAE-related questions as well as demographic items. R Re es su ul lt ts s: : Most doctors (93.5%) reported that they had heard of HAE, and 41.9% had followed at least one patient with HAE, however, 22% of them understood the role of C1 inhibitor in HAE, but 38.7% had no idea about HAE pathogenesis. The only fatal symptom, laryngeal edema, was named by 18% of respondents. Five percent of the respondents knew C4 level was the screening test; 6% knew that C1-INH level/function analysis is necessary for diagnosis. Approximately 10.3% of respondents knew an effective treatment for acute attacks; 18.7% knew a long-term prophylactic therapy. C Co on nc cl lu us si io on n: : We concluded that although most internists are aware of HAE, they are not knowledgeable enough to diagnose and manage the disease. K Ke ey y W Wo or rd ds s: : Angioedemas, hereditary; complement c1 inhibitor protein; physicians; internal medicine; knowledge; awareness Ö ÖZ ZE ET T A Am ma aç ç: : Herediter anjiyoödem (HA), deride, gastrointestinal sistemde ve larinkste tekrarlayıcı şişlik ataklarıyla seyreden nadir, genetik bir hastalıktır. Larinks atakları özellikle tanı almamış ya da hatalı tanı konmuş hastalarda ölümcül olabilmektedir. Türkiye'de HA tanısı ortalama 26 yıl kadar gecikmiş durumdadır. Bu çalışma, ülkemiz hekimlerinin HA'dan ne ölçüde haberdar olduklarını araştır-mak için tasarlanmıştır. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : 14. Ulusal İç Hastalıkları Kongresi'ne katılan 155 iç hastalıkları uzmanına bu hastalıkla ilgili 20 soru yöneltilerek hastalık hakkındaki bilgileri değerlen-dirilmiştir. B Bu ul lg gu ul la ar r: : Hekimlerin önemli bir kısmı (%93,5) HA'yı duyduğunu ve %41,9'u en az bir HA hastası takip ettiğini bildirmekle birlikte, sadece %22'si HA'da C1 inhibitörün rolünün ne olduğunu biliyor iken %38,7'si HA'nın patogenezi hakkında bir fikre sahip değildi. Hastalığın fatal semptomu olan larinks ödemi, ankete katılanların %18'i tarafından biliniyordu. Katılımcıların %5'i C4'ün tarama testi olduğunu, %6'sı C1 inhibitör düzey/işlevinin tanı için gerekli olduğunu biliyordu. Ankete katılanların %10,3'ü akut atakların tedavisinde kullanılan bir ilacın varlığından haberdar iken, %18,7'si uzun süreli profilakside ne kullanılacağı hakkında fikir sahibi idi. S So on nu uç ç: : Bu çalışmada, iç hastalık-ları uzmanlarının çoğunun bu hastalıktan haberdar olduğu, ancak bu hastalığa tanı koyma ve hastalığın tedavisini yönetme açısından yeterli bilgiye sahip olmadıkları sonucuna varılmıştır.A An na ah h t ta ar r K Ke e l li i m me e l le er r: : Anjiyoödemler, herediter; kompleman C1 inhibitör protein; doktorlar; iç hastalıkları; bilgi; farkındalık T Tu ur rk ki iy ye e K Kl li in ni ik kl le er ri i J J M Me ed d S Sc ci i 2 20 01 15 5; ;3 35 5( (2 2) ): :6 67 7--7 72 2

ÖZET Dünya nüfusunun yaklaşık %3'ünün Hepatit C virüsü (HCV) unda (% 37) viremi varlığını doğrulayan HCV-RNA pozitifliği belirlenmiştir. Viremik ve non-viremik serum örnekleri arasında anti-HCV düzeylerinde (S/Co) anlamlı farklılıklar bulunmuştur. Sonuç olarak, Anti-HCV'nin yüksek S/Co değerle-rinin HCV-RNA varlığı ile ilişkili olduğu belirlenmiştir. Böylece, HCV-RNA testi yapılmadan önce anti-HCV S/Co değerle-rinin bilinmesi, hekimin viremi varlığını önceden tahmin etmesini sağlayacak ve HCV-RNA testlerinin yüksek maliyeti azalabilecektir. Anahtar sözcükler: Anti-HCV, HCV-RNA, Hepatit C virüs, viremi SUMMARY Investigation of Viremia Rates and Its Correlation With Anti-HCV Levels in Anti-HCV Positive Serum Samples It is estimated that about 3 % of the world's population are infected with Hepatitis C virus (HCV). The diagnosis and follow-up of HCV infection involve screening for anti-HCV antibodies by serological methods and the detection of HCV-RNA by molecular techniques. HCV antibody assays are highly sensitive and specific in patients with chronic HCV infection, where as they failed to distinguish active HCV infection and past infection. Molecular methods are considered the 'gold standard' for detecting active HCV replication. In our study, it is aimed to determine HCV-RNA positivity in Anti-HCV positive serum samples and its correlation with anti-HCV levels (signal sample/cut-off =S/Co). Serum samples were assayed for anti-HCV by ELISA method (Elecsys Anti-HCV II assay, Roche). A total of 297 anti-HCV positive samples were tested for HCV-RNA. The level of HCV-RNA was measured by quantitative real-time PCR (COBAS Ampliprep / COBAS TaqMan HCV, Roche).In our study, we found HCV-RNA positivity, which confirms the presence of HCV viremia, in 110 (37 %)